中国人群DMD基因含外显子片段的限制性带型和RFLPs研究（Ⅰ）──BglⅡ片段的杂交带型及限制性片段长度多态的频率  

Restriction patterns and RFLPs of exon-containing fragments for Duchenne muscular dystrophy gene in the Chinese(I)-Hybridization pattern and frequencies of RFLPs for Bgl Ⅱ

作　　者：余龙[1] 邓余[1] 三柠 杨玉美[1] 赵寿元[1] 

机构地区：[1]复旦大学遗传学研究所,福建医学院附属第一医院

出　　处：《复旦学报（自然科学版）》1995年第1期37-46,共10页Journal of Fudan University：Natural Science

基　　金：国家自然科学基金;上海市科学技术发展项目基金;中国博士后基金;复旦大学遗传工程国家重点实验室资助

摘　　要：采用ＤＭＤ基因的全长ＣＤＮＮ（４ｋｂ）为杂交探针，分析了中国人群ＤＭＤ基因含外显子片段（ｅｘｏｎ－ｃｏｎｔａｉｎｉｎｇｆｒａｇｍｅｎｔ）的ＢｇｌⅡ限制性片段和ＲＦＬＰｓ．新揭示出四个ＢｇｌＩＩ片段，ＤＭＤ基因全长范围内含外显子的ＢｇｌⅡ限制性片段总数至少为５９个，这为制作ＤＭＤ基因的ＢｇｌⅡ部分限制图奠定了重要基础；另分析了四个ＢｇｌⅡＲＦＬＰｓ在中国人群中的等位频率，在ｃＤＮＡ２ｂ－３、ｃＤＮＡ４－５ａ和ｃＤＮＡ５ｂ－７三个亚克隆探针的杂交带型中，杂合体频率预期值（ＥＨＦ）分别是０．３３、０．３３和０．４４，实际观察值为：０４０、０．４０、０．４８，表明有较高的临床应用价值．此外，在ＢｇｌⅡ／２ｂ－３和ＢｇｌⅡ／４－５ａ的带型中，还分别发现一个新的罕见等位片段．resent paper is one of series reports on the characteristics of molecular structure of Duchenne muscular dystrophy (DMD) gene in the Chinese. Using the complete DMD cDNA (14kb) as a probe, Bgl II astriction flagmentS and RFLPs of exon-containing fragments of DMD gene in the Chinese were analyzed. Among four new Bgl II fragments found, two (3.7 kb and 6.2kb) were detected by cDNA1-2a and its subclones cDNAla and 2a, one (9.3 kb) by cDNAg and one (4.0 kb) by cDNA11-14 and its subclones 11a, 11b, 11c-12a and 14. The results indicated that the number of Bgl IIexon--containing restriction fragments amounted at least to 59 rather than 55 as previously reported These were valuable for the construction of a Bgl II partial restriction map.Three of four RFLPs found in the Caucasians appeared in the hybridization band pattern of three subclone probes, i. e., cDNA2b-3, cDNA4-5a and cDNA5b-7. The values of expectal heterorygote frequency (EHF) were 0.33, 0.33 and 0.M Whereas the observed values were 0.40, 0.40 and 0.48, respectively. Meanwhile, two novel rare allelic fragments(15 kb) have been revealed in the RFLP for Bgl II/2b-3 and Bgl II/4-5a patterns. These RFLPs had been tested in linkage analysis of DMD families and showed a high utility in clinics.

关 键 词：遗传病 DMD基因 含外显子片段 带型 RFLPS 隐性 

分 类 号：R596.2[医药卫生—内科学]